PMID- 10383749
OWN - NLM
STAT- MEDLINE
DCOM- 19990713
LR  - 20041117
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 112
IP  - 6
DP  - 1999 Jun
TI  - Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying
      epidermolysis bullosa pruriginosa.
PG  - 984-7
AB  - The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused
      by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients
      with a distinct clinical subtype of this disease, epidermolysis bullosa
      pruriginosa, characterized by pruritus, excoriated prurigo nodules, and skin
      fragility. Mutation analysis using polymerase chain reaction amplification of
      genomic DNA, heteroduplex analysis and direct nucleotide sequencing demonstrated 
      pathogenetic COL7A1 mutations in each case. Four patients had a glycine
      substitution mutation on one COL7A1 allele (G1791E, G2242R, G2369S, and G2713R), 
      a fifth was a compound heterozygote for a splice site mutation (5532 + 1G-to-A)
      and a single base pair deletion (7786delG), and a sixth patient was heterozygous 
      for an out-of-frame deletion mutation (6863del16). This study shows that the
      molecular pathology in patients with the distinctive clinical features of
      epidermolysis bullosa pruriginosa is heterogeneous and suggests that other
      factors, in addition to the inherent COL7A1 mutation(s), may be responsible for
      an epidermolysis bullosa pruriginosa phenotype.
FAU - Mellerio, J E
AU  - Mellerio JE
AD  - Department of Cell and Molecular Pathology, St John's Institute of Dermatology
      (The Guy's, King's College and St Thomas' Hospitals' Medical School), London, UK.
FAU - Ashton, G H
AU  - Ashton GH
FAU - Mohammedi, R
AU  - Mohammedi R
FAU - Lyon, C C
AU  - Lyon CC
FAU - Kirby, B
AU  - Kirby B
FAU - Harman, K E
AU  - Harman KE
FAU - Salas-Alanis, J C
AU  - Salas-Alanis JC
FAU - Atherton, D J
AU  - Atherton DJ
FAU - Harrison, P V
AU  - Harrison PV
FAU - Griffiths, W A
AU  - Griffiths WA
FAU - Black, M M
AU  - Black MM
FAU - Eady, R A
AU  - Eady RA
FAU - McGrath, J A
AU  - McGrath JA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Base Pairing
MH  - Collagen/*genetics
MH  - Epidermolysis Bullosa Dystrophica/*genetics
MH  - Exons
MH  - Female
MH  - Genetic Heterogeneity
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Pruritus/genetics
MH  - Restriction Mapping
EDAT- 1999/06/26 00:00
MHDA- 1999/06/26 00:01
CRDT- 1999/06/26 00:00
PHST- 1999/06/26 00:00 [pubmed]
PHST- 1999/06/26 00:01 [medline]
PHST- 1999/06/26 00:00 [entrez]
AID - S0022-202X(15)40518-4 [pii]
AID - 10.1046/j.1523-1747.1999.00614.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 1999 Jun;112(6):984-7. doi: 10.1046/j.1523-1747.1999.00614.x.